多发性结肠腺瘤合并多发性骨瘤病例,第一次通过影像学诊断是HENRY PLENK在半个世纪前进行的。家族性腺瘤性息肉病是由于5号染色体上的腺瘤性结肠息肉病基因(APC基因)突变而引起的。骨瘤多出现在颅骨和下鄂骨,长骨也可发生。另外还有不出牙或萌出多余的牙齿、表皮囊肿、纤维瘤等特征。这就是我们所熟知的Gardner综合征,又称为Plenk-Gardner syndrome、魏纳-加德娜综合征、家族性多发性结肠息肉-骨瘤-软组织瘤综合征、家族性结肠息肉症,系常染色体显性遗传疾病。结肠癌在二三十年后发生的危险性很大,因此需要全结肠切除。甲状腺癌和乳腺癌发生的危险性也有增加。
附:1905年由Gardner报道结肠息肉病并家族性骨瘤、软组织瘤和结肠癌者机会较多,其后于1958年Smith提出结肠息肉、软组织肿瘤和骨瘤三联征为Gardner综合征。
This is one of the original cases of multiple colonic adenomas with multiple osteomas first diagnosed radiographically by Dr. Henry Plenk a half century ago. This condition is a variation of the familial adenomatous polyposis syndrome resulting from inheritance of a mutation in the adenomatous polyposis coli (APC) gene on chromosome 5. The osteomas are typically found in skull and mandible and less frequently in long bones. Other features include unerupted or supernumerary teeth, epidermal cysts, and fibromatoses. Commonly known as Gardner's syndrome, this condition is best termed Plenk-Gardner syndrome. It is inherited in an autosomal dominant fashion. The risk for colon cancer is so great by the second or third decade that a total colectomy is performed. There is also an increased frequency of thyroid and breast cancer.